Diagnosis and Testing
What does it mean to have a "variant" in the gene for Alpha-mannosidosis?
A "variant" is another word for a change in a gene. Sometimes these changes are not associated with causing a genetic disease or condition, and other times they are. Variants can be benign (not disease-causing), pathogenic (disease-causing), or of unknown significance (possibly disease-causing). Looking at a person's genetic testing report can be helpful to know what type of variant or genetic change someone has inherited for Alpha-mannosidosis. If a person has Alpha-mannosidosis, they have two different disease-causing (pathogenic) variants in their MAN2B1 genes.